rs4442270

Variant names:

• chrX-45172772-T-A
• rs4442270
• NM_176819.4:c.499-14884A>T

Your query was ambiguous. Multiple possible variants found:

• chrX-45172772-T-A
• chrX-45172772-T-C

Variant summary

Our verdict is Likely benign. The variant received -2 ACMG points: 2P and 4B. PM2 BP4_Strong

The NM_176819.4(DIPK2B):​c.499-14884A>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: not found (cov: 23)
• Consequence: DIPK2B NM_176819.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.489
• Publications: 2 publications found

Genes affected

DIPK2B (HGNC:25866): (divergent protein kinase domain 2B) Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

Our verdict: Likely_benign. The variant received -2 ACMG points.

• PM2: Very rare variant in population databases, with high coverage
• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.87).

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
DIPK2B	NM_176819.4	c.499-14884A>T		intron_variant	Intron 2 of 4	ENST00000398000.7	NP_789789.2
DIPK2B	NM_024689.3	c.499-8523A>T		intron_variant	Intron 2 of 2		NP_078965.2
DIPK2B	XM_005272670.1	c.499-18574A>T		intron_variant	Intron 2 of 3		XP_005272727.1
DIPK2B	XM_006724559.1	c.499-18574A>T		intron_variant	Intron 2 of 3		XP_006724622.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
DIPK2B	ENST00000398000.7	c.499-14884A>T		intron_variant	Intron 2 of 4	5	NM_176819.4	ENSP00000381086.2
DIPK2B	ENST00000377934.4	c.499-8523A>T		intron_variant	Intron 2 of 2	1		ENSP00000367168.4
DIPK2B	ENST00000477281.1	n.88-18691A>T		intron_variant	Intron 1 of 2	5

Frequencies

GnomAD3 genomes Cov.: 23

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome Cov.: 23

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.87
CADD	Benign	2.5
DANN	Benign	0.40
PhyloP100		0.49

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.0		Details are displayed if max score is > 0.2

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Other links and lift over

dbSNP: rs4442270; hg19: chrX-45032017;